Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin

T. Gardeitchik, N. de Leeuw, L. Nijtmans, P. Jira, Tamas Kozicz, M. Czako, I. van de Burgt, Eva Morava-Kozicz

Research output: Contribution to journalLetter

3 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)469-472
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number2
DOIs
StatePublished - Feb 1 2012
Externally publishedYes

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Costello Syndrome
Cutis Laxa
Beckwith-Wiedemann Syndrome
Chromosome Duplication
Proto-Oncogene Proteins p21(ras)
Multiple Abnormalities
Chromosomes, Human, Pair 11
Elastin
Cleft Lip
Cleft Palate
Preschool Children
Hydrocephalus
Karyotype

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin. / Gardeitchik, T.; de Leeuw, N.; Nijtmans, L.; Jira, P.; Kozicz, Tamas; Czako, M.; van de Burgt, I.; Morava-Kozicz, Eva.

In: American Journal of Medical Genetics, Part A, Vol. 158 A, No. 2, 01.02.2012, p. 469-472.

Research output: Contribution to journalLetter

Gardeitchik, T. ; de Leeuw, N. ; Nijtmans, L. ; Jira, P. ; Kozicz, Tamas ; Czako, M. ; van de Burgt, I. ; Morava-Kozicz, Eva. / Infant with MCA and severe cutis laxa due to a de novo duplication 11p of paternal origin. In: American Journal of Medical Genetics, Part A. 2012 ; Vol. 158 A, No. 2. pp. 469-472.
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